-
1
-
-
0242643434
-
Relevance of oxidative injury in the pathogenesis of motor neuron diseases
-
Agar J, Durham H (2003) Relevance of oxidative injury in the pathogenesis of motor neuron diseases. Amyotroph Lateral Scler Other Motor Neuron Disord 4:232-242
-
(2003)
Amyotroph Lateral Scler Other Motor Neuron Disord
, vol.4
, pp. 232-242
-
-
Agar, J.1
Durham, H.2
-
2
-
-
0029962924
-
International database of tetrahydrobiopterin deficiencies
-
Blau N, Barnes I, Dhondt JL (1996) International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 19:8-14
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 8-14
-
-
Blau, N.1
Barnes, I.2
Dhondt, J.L.3
-
3
-
-
0034788778
-
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
-
Blau N, Bonafe L, Thöny B (2001a) Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab 74:172-185
-
(2001)
Mol Genet Metab
, vol.74
, pp. 172-185
-
-
Blau, N.1
Bonafe, L.2
Thöny, B.3
-
4
-
-
0026456626
-
Atypical (mild) forms of dihydropteridine reductase deficiency: Neurochemical evaluation and mutation detection
-
Blau N, Heizmann CW, Sperl W, Korenke GC, Hoffmann GF, Smooker PM, Cotton RG (1992) Atypical (mild) forms of dihydropteridine reductase deficiency: neurochemical evaluation and mutation detection. Pediatr Res 32:726-730
-
(1992)
Pediatr Res
, vol.32
, pp. 726-730
-
-
Blau, N.1
Heizmann, C.W.2
Sperl, W.3
Korenke, G.C.4
Hoffmann, G.F.5
Smooker, P.M.6
Cotton, R.G.7
-
5
-
-
0000138089
-
Disorders of K-trahydrobiopterin and related biogenic amines
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Blau N, Thöny B, Cotton RGH, Hyland K (2001b) Disorders of K-trahydrobiopterin and related biogenic amines. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. Vol. II. McGraw-Hill, New York, pp 1725-1776
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 1725-1776
-
-
Blau, N.1
Thöny, B.2
Cotton, R.G.H.3
Hyland, K.4
-
6
-
-
0345518030
-
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading
-
Blau N, Thöny B, Renneberg A, Penzien JM, Hyland K, Hoffmann GF (1999) Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading. J Inherit Metab Dis 22:216-220
-
(1999)
J Inherit Metab Dis
, vol.22
, pp. 216-220
-
-
Blau, N.1
Thöny, B.2
Renneberg, A.3
Penzien, J.M.4
Hyland, K.5
Hoffmann, G.F.6
-
7
-
-
0034928621
-
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
-
Bonafe L, Thöny B, Penzien JM, Czarnecki B, Blau N (2001) Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. Am J Hum Genet 69:269-277
-
(2001)
Am J Hum Genet
, vol.69
, pp. 269-277
-
-
Bonafe, L.1
Thöny, B.2
Penzien, J.M.3
Czarnecki, B.4
Blau, N.5
-
8
-
-
0030661683
-
Dopamine function in obsessive-compulsive disorder: Growth hormone response to apomorphine stimulation
-
Brambilla F, Bellodi L, Perna G, Arancio C, Bertani A (1997) Dopamine function in obsessive-compulsive disorder: growth hormone response to apomorphine stimulation. Biol Psychiatry 42:889-897
-
(1997)
Biol Psychiatry
, vol.42
, pp. 889-897
-
-
Brambilla, F.1
Bellodi, L.2
Perna, G.3
Arancio, C.4
Bertani, A.5
-
9
-
-
0026031599
-
Radioimmunoassay for insulin-like growth factor-I: Solutions to some potential problems and pitfalls
-
Breier BH, Gallaher BW, Gluckman PD (1991) Radioimmunoassay for insulin-like growth factor-I: solutions to some potential problems and pitfalls. J Endocrinol 128:347-357
-
(1991)
J Endocrinol
, vol.128
, pp. 347-357
-
-
Breier, B.H.1
Gallaher, B.W.2
Gluckman, P.D.3
-
10
-
-
0036212322
-
Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male mice
-
Diaz-Torga G, Feierstein C, Libertun C, Gelman D, Kelly MA, Low MJ, Rubinstein M, Becu-Villalobos D (2002) Disruption of the D2 dopamine receptor alters GH and IGF-I secretion and causes dwarfism in male mice. Endocrinology 143:1270-1279
-
(2002)
Endocrinology
, vol.143
, pp. 1270-1279
-
-
Diaz-Torga, G.1
Feierstein, C.2
Libertun, C.3
Gelman, D.4
Kelly, M.A.5
Low, M.J.6
Rubinstein, M.7
Becu-Villalobos, D.8
-
12
-
-
0010117039
-
Sepiapterin reductase deficiency: Molecular analysis in a new case presenting with neurotransmitter deficiency without hyperphenylalaninemia
-
Milstien S, Kapatos G, Shane B, Levine RA (eds). Kluwer Academic Publishers, Norwell, MA
-
Elzaouk L, Osmani H, Romstad A, Friedman J, Maccollin M, Thöny B, Blau N (2002) Sepiapterin reductase deficiency: molecular analysis in a new case presenting with neurotransmitter deficiency without hyperphenylalaninemia. In: Milstien S, Kapatos G, Shane B, Levine RA (eds) Chemistry and biology of pteridines and folates. Kluwer Academic Publishers, Norwell, MA, pp 277-285
-
(2002)
Chemistry and Biology of Pteridines and Folates
, pp. 277-285
-
-
Elzaouk, L.1
Osmani, H.2
Romstad, A.3
Friedman, J.4
Maccollin, M.5
Thöny, B.6
Blau, N.7
-
13
-
-
0347086140
-
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration
-
Fiege B, Ballhausen D, Kierat L, Leimbacher W, Goriounov D, Schircks B, Thöny B, Blau N (2004) Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration. Mol Genet Metab 81:45-51
-
(2004)
Mol Genet Metab
, vol.81
, pp. 45-51
-
-
Fiege, B.1
Ballhausen, D.2
Kierat, L.3
Leimbacher, W.4
Goriounov, D.5
Schircks, B.6
Thöny, B.7
Blau, N.8
-
14
-
-
28844468010
-
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study
-
Fiege B, Bonafe L, Ballhausen D, Baumgartner M, Thöny B, Meili D, Fiori L, Giovannini M, Blau N (2005) Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab 86:91-95
-
(2005)
Mol Genet Metab
, vol.86
, pp. 91-95
-
-
Fiege, B.1
Bonafe, L.2
Ballhausen, D.3
Baumgartner, M.4
Thöny, B.5
Meili, D.6
Fiori, L.7
Giovannini, M.8
Blau, N.9
-
15
-
-
0032852842
-
Tetrahydropterin-dependent amino acid hydroxylases
-
Fitzpatrick PF (1999) Tetrahydropterin-dependent amino acid hydroxylases. Annu Rev Biochem 68:355-381
-
(1999)
Annu Rev Biochem
, vol.68
, pp. 355-381
-
-
Fitzpatrick, P.F.1
-
16
-
-
0033835893
-
The neuropathology of phenylketonuria: Human and animal studies
-
Huttenlocher PR (2000) The neuropathology of phenylketonuria: human and animal studies. Eur J Pediatr Suppl 2 159:5102-5106
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 2
, pp. 5102-5106
-
-
Huttenlocher, P.R.1
-
17
-
-
10744221687
-
A haplotype at the PARK3 locus influences onset age for Parkinson's disease: The GenePD study
-
Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, et al (2003) A haplotype at the PARK3 locus influences onset age for Parkinson's disease: the GenePD study. Neurology 61:1557-1561
-
(2003)
Neurology
, vol.61
, pp. 1557-1561
-
-
Karamohamed, S.1
Destefano, A.L.2
Wilk, J.B.3
Shoemaker, C.M.4
Golbe, L.I.5
Mark, M.H.6
Lazzarini, A.M.7
-
18
-
-
17744386526
-
Pivotal role for endothelial tetrahydrobiopterin in pulmonary hypertension
-
Khoo JP, Zhao L, Alp NJ, Bendall JK, Nicoli T, Rockett K, Wilkins MR, Channon KM (2005) Pivotal role for endothelial tetrahydrobiopterin in pulmonary hypertension. Circulation 111:2126-2133
-
(2005)
Circulation
, vol.111
, pp. 2126-2133
-
-
Khoo, J.P.1
Zhao, L.2
Alp, N.J.3
Bendall, J.K.4
Nicoli, T.5
Rockett, K.6
Wilkins, M.R.7
Channon, K.M.8
-
19
-
-
0141459380
-
Tetrahydrobiopterin prevents nitration of tyrosine hydroxylase by peroxynitrite and nitrogen dioxide
-
Kuhn DM, Geddes TJ (2003) Tetrahydrobiopterin prevents nitration of tyrosine hydroxylase by peroxynitrite and nitrogen dioxide. Mol Pharmacol 64:946-953
-
(2003)
Mol Pharmacol
, vol.64
, pp. 946-953
-
-
Kuhn, D.M.1
Geddes, T.J.2
-
20
-
-
0013687930
-
Cloning of mouse sepiapterin reductase gene and characterization of its promoter region
-
Lee SW, Park IY, Hahn Y, Lee JE, Seong CS, Chung JH, Park YS (1999) Cloning of mouse sepiapterin reductase gene and characterization of its promoter region. Biochim Biophys Acta 1445:165-171
-
(1999)
Biochim Biophys Acta
, vol.1445
, pp. 165-171
-
-
Lee, S.W.1
Park, I.Y.2
Hahn, Y.3
Lee, J.E.4
Seong, C.S.5
Chung, J.H.6
Park, Y.S.7
-
21
-
-
0025276536
-
Immunological evidence for the requirement of sepiapterin reductase for tetrahydrobiopterin biosynthesis in brain
-
Levine RA, Kapatos G, Kaufman S, Milstien S (1990) Immunological evidence for the requirement of sepiapterin reductase for tetrahydrobiopterin biosynthesis in brain. J Neurochem 54:1218-1224
-
(1990)
J Neurochem
, vol.54
, pp. 1218-1224
-
-
Levine, R.A.1
Kapatos, G.2
Kaufman, S.3
Milstien, S.4
-
22
-
-
0032160227
-
Insulin-like growth factor-I affects perinatal lethality and postnatal development in a gene dosage-dependent manner: Manipulation using the Cre/loxP system in transgenic mice
-
Liu JL, Grinberg A, Westphal H, Sauer B, Accili D, Karas M, LeRoith D (1998) Insulin-like growth factor-I affects perinatal lethality and postnatal development in a gene dosage-dependent manner: manipulation using the Cre/loxP system in transgenic mice. Mol Endocrinol 12:1452-1462
-
(1998)
Mol Endocrinol
, vol.12
, pp. 1452-1462
-
-
Liu, J.L.1
Grinberg, A.2
Westphal, H.3
Sauer, B.4
Accili, D.5
Karas, M.6
Leroith, D.7
-
23
-
-
0027496895
-
Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r)
-
Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A (1993) Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 75:59-72
-
(1993)
Cell
, vol.75
, pp. 59-72
-
-
Liu, J.P.1
Baker, J.2
Perkins, A.S.3
Robertson, E.J.4
Efstratiadis, A.5
-
24
-
-
0028816765
-
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
-
Ludecke B, Dworniczak B, Bartholome K (1995) A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum Genet 95:123-125
-
(1995)
Hum Genet
, vol.95
, pp. 123-125
-
-
Ludecke, B.1
Dworniczak, B.2
Bartholome, K.3
-
25
-
-
0030035985
-
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Ludecke B, Knappskog PM, Clayton PT, Surtees RAH, Clelland JD, Heales SJR, Brand MP, Bartholome K, Fiatmark T (1996) Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet 5:1023-1028
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1023-1028
-
-
Ludecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
Surtees, R.A.H.4
Clelland, J.D.5
Heales, S.J.R.6
Brand, M.P.7
Bartholome, K.8
Fiatmark, T.9
-
26
-
-
1542560237
-
Fluonmetric method for the determination of phenylalanine in serum
-
McCaman MW, Robins E (1962) Fluonmetric method for the determination of phenylalanine in serum. J Lab Clin Med 59:885-890
-
(1962)
J Lab Clin Med
, vol.59
, pp. 885-890
-
-
McCaman, M.W.1
Robins, E.2
-
27
-
-
0024817857
-
Immunological studies on the participation of 6-pyruvoyl tetrahydropterin (2′-oxo) reductase, an aldose reductase, in tetrahydrobiopterin biosynthesis
-
Milstien S, Kaufman S (1989) Immunological studies on the participation of 6-pyruvoyl tetrahydropterin (2′-oxo) reductase, an aldose reductase, in tetrahydrobiopterin biosynthesis. Biochem Biophys Res Commun 165:845-850
-
(1989)
Biochem Biophys Res Commun
, vol.165
, pp. 845-850
-
-
Milstien, S.1
Kaufman, S.2
-
29
-
-
17744381754
-
Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse
-
Nandi M, Miller A, Stidwill R, Jacques TS, Lam AA, Haworth S, Heales S, Vallance P (2005) Pulmonary hypertension in a GTP-cyclohydrolase 1-deficient mouse. Circulation 111:2086-2090
-
(2005)
Circulation
, vol.111
, pp. 2086-2090
-
-
Nandi, M.1
Miller, A.2
Stidwill, R.3
Jacques, T.S.4
Lam, A.A.5
Haworth, S.6
Heales, S.7
Vallance, P.8
-
30
-
-
26044449033
-
Sepiapterin reductase deficiency, a congenital dopa-responsive motor and cognitive disorder
-
Neville BG, Parascandalo R, Farrugia R, Felice A (2005) Sepiapterin reductase deficiency, a congenital dopa-responsive motor and cognitive disorder. Brain 128:2291-2296
-
(2005)
Brain
, vol.128
, pp. 2291-2296
-
-
Neville, B.G.1
Parascandalo, R.2
Farrugia, R.3
Felice, A.4
-
31
-
-
0028819195
-
Mouse sepiapterin reductase: An enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence
-
Ota A, Ichinose H, Nagatsu T (1995) Mouse sepiapterin reductase: an enzyme involved in the final step of tetrahydrobiopterin biosynthesis. Primary structure deduced from the cDNA sequence. Biochim Biophys Acta 1260:320-322
-
(1995)
Biochim Biophys Acta
, vol.1260
, pp. 320-322
-
-
Ota, A.1
Ichinose, H.2
Nagatsu, T.3
-
32
-
-
0025896495
-
Human carbonyl and aldose reductases: New catalytic functions in tetrahydrobiopterin biosynthesis
-
Park YS, Heizmann CW, Wermuth B, Levine RA, Steinerstauch P, Guzman J, Blau N (1991) Human carbonyl and aldose reductases: new catalytic functions in tetrahydrobiopterin biosynthesis. Biochem Biophys Res Commun 175:738-744
-
(1991)
Biochem Biophys Res Commun
, vol.175
, pp. 738-744
-
-
Park, Y.S.1
Heizmann, C.W.2
Wermuth, B.3
Levine, R.A.4
Steinerstauch, P.5
Guzman, J.6
Blau, N.7
-
33
-
-
0027169357
-
Northern hybridization: Rapid and simple electrophoretic conditions
-
Pelle R, Murphy NB (1993) Northern hybridization: rapid and simple electrophoretic conditions. Nucleic Acids Res 21:2783-2784
-
(1993)
Nucleic Acids Res
, vol.21
, pp. 2783-2784
-
-
Pelle, R.1
Murphy, N.B.2
-
34
-
-
0027749170
-
IGF-I is required for normal embryonic growth in mice
-
Powell-Braxton L, Hollingshead P, Warburton C, Dowd M, Pitts-Meek S, Dalton D, Gillett N, Stewart TA (1993) IGF-I is required for normal embryonic growth in mice. Genes Dev 7:2609-2617
-
(1993)
Genes Dev
, vol.7
, pp. 2609-2617
-
-
Powell-Braxton, L.1
Hollingshead, P.2
Warburton, C.3
Dowd, M.4
Pitts-Meek, S.5
Dalton, D.6
Gillett, N.7
Stewart, T.A.8
-
35
-
-
0000134296
-
Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
-
Scriver CR, Kaufman S (2001) Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease. Vol. II. McGraw-Hill, New York, pp 1667-1724
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 1667-1724
-
-
Scriver, C.R.1
Kaufman, S.2
-
37
-
-
0037331447
-
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art
-
Spaapen LJ, Rubio-Gozalbo ME (2003) Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency, state of the art. Mol Genet Metab 78:93-99
-
(2003)
Mol Genet Metab
, vol.78
, pp. 93-99
-
-
Spaapen, L.J.1
Rubio-Gozalbo, M.E.2
-
38
-
-
5444257312
-
Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
-
Steinberger D, Blau N, Goriuonov D, Bitsch J, Zuker M, Hummel S, Müller U (2004) Heterozygous mutation in 5′-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia. Neurogenetics 5:187-190
-
(2004)
Neurogenetics
, vol.5
, pp. 187-190
-
-
Steinberger, D.1
Blau, N.2
Goriuonov, D.3
Bitsch, J.4
Zuker, M.5
Hummel, S.6
Müller, U.7
-
39
-
-
0035798563
-
Catecholamines and serotonin are differently regulated by terrahydrobiopterin - A study from 6-pyruvoyltetrahydropterin synthase knockout mice
-
Sumi-Ichinose C, Urano F, Kuroda R, Ohye T, Kojima M, Tazawa M, Shiraishi H, Hagino Y, Nagatsu T, Nomura T, Ichinose H (2001) Catecholamines and serotonin are differently regulated by terrahydrobiopterin-a study from 6-pyruvoyltetrahydropterin synthase knockout mice. J Biol Chem 276:41150-41160
-
(2001)
J Biol Chem
, vol.276
, pp. 41150-41160
-
-
Sumi-Ichinose, C.1
Urano, F.2
Kuroda, R.3
Ohye, T.4
Kojima, M.5
Tazawa, M.6
Shiraishi, H.7
Hagino, Y.8
Nagatsu, T.9
Nomura, T.10
Ichinose, H.11
-
40
-
-
0034964279
-
Dopamine production in the caudate putamen restores feeding in dopamine-deficient mice
-
Szczypka MS, Kwok K, Brot MD, Marck BT, Matsumoto AM, Donahue BA, Palmiter RD (2001) Dopamine production in the caudate putamen restores feeding in dopamine-deficient mice. Neuron 30:819-828
-
(2001)
Neuron
, vol.30
, pp. 819-828
-
-
Szczypka, M.S.1
Kwok, K.2
Brot, M.D.3
Marck, B.T.4
Matsumoto, A.M.5
Donahue, B.A.6
Palmiter, R.D.7
-
41
-
-
0034933093
-
Differences between humans and mice in efficacy of the body fat lowering effect of conjugated linoleic acid: Role of metabolic rate
-
Terpstra AH (2001) Differences between humans and mice in efficacy of the body fat lowering effect of conjugated linoleic acid: role of metabolic rate. J Nutr 131:2067-2068
-
(2001)
J Nutr
, vol.131
, pp. 2067-2068
-
-
Terpstra, A.H.1
-
42
-
-
0034176921
-
Tetrahydrobiopterin biosynthesis, regeneration and functions
-
Thöny B, Auerbach G, Blau N (2000) Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem J 347:1-16
-
(2000)
Biochem J
, vol.347
, pp. 1-16
-
-
Thöny, B.1
Auerbach, G.2
Blau, N.3
-
43
-
-
0030877470
-
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
-
Thöny B, Blau N (1997) Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat 10:11-20
-
(1997)
Hum Mutat
, vol.10
, pp. 11-20
-
-
Thöny, B.1
Blau, N.2
-
44
-
-
0031750012
-
Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)
-
Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N (1998a) Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). Am J Hum Genet 62:1302-1311
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1302-1311
-
-
Thöny, B.1
Neuheiser, F.2
Kierat, L.3
Blaskovics, M.4
Arn, P.H.5
Ferreira, P.6
Rebrin, I.7
Ayling, J.8
Blau, N.9
-
45
-
-
0031595628
-
Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
-
Thöny B, Neuheiser F, Kierat L, Rolland MO, Guibaud P, Schlüter T, Germann R, Heidenreich RA, Duran M, de Klerk JB, Ayling JE, Blau N (1998b) Mutations in the pterin-4α-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia. Hum Genet 103:162-167
-
(1998)
Hum Genet
, vol.103
, pp. 162-167
-
-
Thöny, B.1
Neuheiser, F.2
Kierat, L.3
Rolland, M.O.4
Guibaud, P.5
Schlüter, T.6
Germann, R.7
Heidenreich, R.A.8
Duran, M.9
De Klerk, J.B.10
Ayling, J.E.11
Blau, N.12
-
46
-
-
0025780879
-
Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene
-
Tybulewicz VL, Crawford CE, Jackson PK, Bronson RT, Mulligan RC (1991) Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell 65:1153-1163
-
(1991)
Cell
, vol.65
, pp. 1153-1163
-
-
Tybulewicz, V.L.1
Crawford, C.E.2
Jackson, P.K.3
Bronson, R.T.4
Mulligan, R.C.5
-
47
-
-
0036354960
-
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency
-
Zorzi G, Redweik U, Trippe H, Penzien JM, Thöny B, Blau N (2002) Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab 75:174-177
-
(2002)
Mol Genet Metab
, vol.75
, pp. 174-177
-
-
Zorzi, G.1
Redweik, U.2
Trippe, H.3
Penzien, J.M.4
Thöny, B.5
Blau, N.6
|